Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Abstract

BackgroundSmith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep disorders. Ninety percent of the cases are due to a 17p11.2 deletion encompassing the RAI1 gene; other cases are linked to mutations of the same gene. Behavioral disorders often include outbursts, attention deficit/hyperactivity disorders, self-injury with onychotillomania and polyembolokoilamania (insertion of objects into body orifices), etc. Interestingly, the stronger the speech delay and sleep disorders, the more severe the behavioral issues. Sleep disturbances associate excessive daytime sleepiness with nighttime agitation. They are underpinned by an inversion of the melatonin secretion cycle. However, the combined intake of beta-blockers in the morning and melatonin in the evening may radically alleviate the circadian rhythm problems.DiscussionOnce sleep disorders are treated, the next challenge is finding an effective treatment for the remaining behavioral problems. Unfortunately, there is a lack of objective guidelines. A comprehensive evaluation of such disorders should include sleep disorders, potential causes of pain, neurocognitive level and environment (i.e. family and school). In any case, efforts should focus on improving communication skills, identifying and treating attention deficit/hyperactivity, aggressiveness and anxiety.SummaryTreatment of Smith-Magenis syndrome is complex and requires a multidisciplinary team including, among others, geneticists, psychiatrists, neuropediatricians/neurologists, somnologists, developmental and behavioral pediatricians, and speech and language therapists.

DRG2 Deficient Mice Exhibit Impaired Motor Behaviors with Reduced Striatal Dopamine Release

“…Interestingly, DRG2 is one of the genes on chromosome 17 at 17p11.2, which is related to Potocki-Lupski syndrome (PTLS) [45] and Smith-Magenis syndrome (SMS) [46] by point duplication and deletion, respectively. SMS patients exhibit craniofacial abnormalities, developmental delays, anxiety, hyperactivity, and circadian abnormalities [47,48]. Our preliminary analyses revealed that DRG2-deficient mice had hyperactivity and circadian abnormalities (H.R.L.…”

Behavioral treatment of automatically reinforced SIB: 1982 – 2015

“…The nature of SIB as a severe problem behavior is unique because SIB produces wounds to one's own person (Tate & Baroff, ). In addition, specific topographies and forms of SIB are one of the defining features of a number of behavioral phenotypes, such as Smith‐Magenis, Lesch–Nyhan, and Prader‐Willi syndromes (Didden, Korzilius, & Curfs, ; Elsea & Girirajan, ; Hustyi, Hammond, Rezvani, & Hall, , Lee, Berkowitz, & Choi, ; Nyhan, ; Poisson et al, ; Symons, Butler, Sanders, Feurer, & Thompson, ; Thompson & Caruso, ). For example, in a study by Symons et al (), 81% of their sample of individuals with Prader‐Willi syndrome engaged in a specific form of SIB (skin picking) and often in the same body locations.…”

Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist

“…They have all been in contact with resource centres for rare disorders in Sweden and Norway and their challenging behaviour is followed by either their regional or local professionals. Knowledge regarding how to handle challenging behaviours in SMS are scarce (Poisson et al, 2015) and more research is needed, in addition a continuous effort to spread information to the local communities and professionals close to the families. In this study, we did not perform a thorough investigation of either intellectual level or communication, and that information is needed to further investigate whether there is a relation between behavioural problems and intellectual disability and communication.…”